3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Latest Advances
Find the Latest Research About 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Last Updated: 09/26/2026
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Found 91 publications
Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.
Journal: Molecular genetics and metabolism
Published: May 19, 2026
Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center.
Journal: The journal of obstetrics and gynaecology research
Published: April 03, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.
Journal: Molecular genetics and metabolism
Published: September 20, 2025
Perioperative Anesthetic Considerations in HMG-CoA Lyase Deficiency: Case Report and Literature Review.
Journal: Journal of clinical medicine
Published: September 19, 2025
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Journal: Turkish archives of pediatrics
Published: September 17, 2025
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Journal: Molecular genetics and metabolism reports
Published: July 23, 2025
3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients.
Journal: BMC pediatrics
Published: May 21, 2025
Metabolic origin and significance of 3-methylglutaryl CoA.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 20, 2025
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 18, 2025
Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.
Journal: Journal of inherited metabolic disease
Published: March 14, 2025
Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.
Journal: Journal of investigative medicine high impact case reports
Published: August 15, 2024
Last Updated: 09/26/2026